Reviews

	Rett syndrome: clinical review and genetic update L S Weaving, C J Ellaway, J Gécz, and J Christodoulou J Med Genet 2005; 42: 1-7. doi:10.1136/jmg.2004.027730 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes S M Gribble, E Prigmore, D C Burford, K M Porter, Bee Ling Ng, E J Douglas, H Fiegler, P Carr, D Kalaitzopoulos, S Clegg, R Sandstrom, I K Temple, S A Youings, N S Thomas, N R Dennis, P A Jacobs, J A Crolla, and N P Carter J Med Genet 2005; 42: 8-16. doi:10.1136/jmg.2004.024141 [Abstract] [Full text] [PDF] [Request Permissions]
	Fine mapping of a region on chromosome 21q21.11–q22.3 showing linkage to type 1 diabetes R Bergholdt, J Nerup, and F Pociot J Med Genet 2005; 42: 17-25. doi:10.1136/jmg.2004.022004 [Abstract] [Full text] [PDF] [Request Permissions]
	Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study F A Sayed-Tabatabaei, A F C Schut, A Arias Vásquez, A M Bertoli-Avella, A Hofman, J C M Witteman, and C M van Duijn J Med Genet 2005; 42: 26-30. doi:10.1136/jmg.2004.022756 [Abstract] [Full text] [PDF] [Request Permissions]
	A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas C De Bustos, A Smits, B Strömberg, V P Collins, M Nistér, and G Afink J Med Genet 2005; 42: 31-37. doi:10.1136/jmg.2004.024034 [Abstract] [Full text] [PDF] [Request Permissions]
	Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection S Steinberg, S Katsanis, A Moser, and G Cutting J Med Genet 2005; 42: 38-44. doi:10.1136/jmg.2004.023556 [Abstract] [Full text] [PDF] [Request Permissions]
	Multiple meningiomas: differential involvement of the NF2 gene in children and adults D G R Evans, C Watson, A King, A J Wallace, and M E Baser J Med Genet 2005; 42: 45-48. doi:10.1136/jmg.2004.023705 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome J D Hoffman, Y Zhang, J Greshock, K L Ciprero, B S Emanuel, E H Zackai, B L Weber, and J E Ming J Med Genet 2005; 42: 49-53. doi:10.1136/jmg.2004.024372 [Abstract] [Full text] [PDF] [Request Permissions]

Medical genetics in practice

	An aetiological classification of birth defects for epidemiological research D Wellesley, P Boyd, H Dolk, and S Pattenden J Med Genet 2005; 42: 54-57. doi:10.1136/jmg.2004.023309 [Abstract] [Full text] [PDF] [Request Permissions]
	New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype M Font-Llitjós, M Jiménez-Vidal, L Bisceglia, M Di Perna, L de Sanctis, F Rousaud, L Zelante, M Palacín, and V Nunes J Med Genet 2005; 42: 58-68. doi:10.1136/jmg.2004.022244 [Abstract] [Full text] [Web-only Tables and Figures] [PDF] [Request Permissions]
	A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing J W Cardinal, L Bergman, N Hayward, A Sweet, J Warner, L Marks, D Learoyd, T Dwight, B Robinson, M Epstein, M Smith, B T Teh, D P Cameron, and J B Prins J Med Genet 2005; 42: 69-74. doi:10.1136/jmg.2003.017319 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Evidence for a gene influencing haematocrit on chromosome 6q23–24: genomewide scan in the Framingham Heart Study J-P Lin, C J O’Donnell, D Levy, and L A Cupples J Med Genet 2005; 42: 75-79. doi:10.1136/jmg.2004.021097 [Extract] [Full text] [PDF] [Request Permissions]
	A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14 P A Wilkinson, M A Simpson, L Bastaki, H Patel, J A Reed, K Kalidas, E Samilchuk, R Khan, T T Warner, and A H Crosby J Med Genet 2005; 42: 80-82. doi:10.1136/jmg.2004.020172 [Extract] [Full text] [PDF] [Request Permissions]
	A full genome scan for gastric cancer M Aoki, K Yamamoto, H Noshiro, K Sakai, J Yokota, T Kohno, T Tokino, S Ishida, S Ohyama, I Ninomiya, K Uesaka, M Kitajima, S Shimada, S Matsuno, M Yano, M Hiratsuka, H Sugimura, F Itoh, T Minamoto, Y Maehara, S Takenoshita, T Aikou, H Katai, K Yoshimura, T Takahashi, K Akagi, M Sairenji, Y Yamamura, and T Sasazuki J Med Genet 2005; 42: 83-87. doi:10.1136/jmg.2004.021782 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of a new locus for isolated familial keratoconus at 2p24 H Hutchings, H Ginisty, M Le Gallo, D Levy, F Stoësser, J F Rouland, J L Arné, M H Lalaux, P Calvas, M P Roth, A Hovnanian, and F Malecaze J Med Genet 2005; 42: 88-94. doi:10.1136/jmg.2004.022103 [Extract] [Full text] [PDF] [Request Permissions]
	The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients K Eliason, B C Hendrickson, T Judkins, M Norton, B Leclair, E Lyon, B Ward, W Noll, and T Scholl J Med Genet 2005; 42: 95-96. doi:10.1136/jmg.2004.025973 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	A third locus for dominant optic atrophy on chromosome 22q F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, S Hanein, D Ducroq, J-L Dufier, A Munnich, J Kaplan, and J-M Rozet J Med Genet 2005; 42: e1. doi:10.1136/jmg.2004.025502 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation N J Leonard, A L Krol, S Bleoo, and M J Somerville J Med Genet 2005; 42: e2. doi:10.1136/jmg.2003.017376 [Extract] [Full text] [PDF] [Request Permissions]
	A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma T Hienonen, H Sammalkorpi, P Isohanni, R Versteeg, R Karikoski, and L A Aaltonen J Med Genet 2005; 42: e3. doi:10.1136/jmg.2004.022814 [Extract] [Full text] [PDF] [Request Permissions]
	First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations L Pasquier, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, and F Encha-Razavi J Med Genet 2005; 42: e4. doi:10.1136/jmg.2004.023416 [Extract] [Full text] [PDF] [Request Permissions]
	Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases S-W Kim, C S Lee, J V Fey, P I Borgen, and J Boyd J Med Genet 2005; 42: e5. doi:10.1136/jmg.2004.025056 [Extract] [Full text] [PDF] [Request Permissions]